ClinVar Miner

List of variants in gene MYBPC3 studied for Left ventricular noncompaction 10

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Gene type:
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Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_000256.3(MYBPC3):c.1091-24C>T rs2856650 0.22861
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058 0.08958
NM_000256.3(MYBPC3):c.1223+29G>A rs11570078 0.08776
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06899
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051 0.03962
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936 0.03309
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953 0.03083
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_000256.3(MYBPC3):c.*236G>A rs11570121 0.01781
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_000256.3(MYBPC3):c.*113G>T rs117960173 0.00045
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906 0.00043
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 0.00038
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000256.3(MYBPC3):c.772+10C>T rs375525278 0.00030
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe) rs375776406 0.00019
NM_000256.3(MYBPC3):c.*127G>A rs549519453 0.00018
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00016
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met) rs199893357 0.00016
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016 0.00013
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054 0.00013
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00012
NM_000256.3(MYBPC3):c.*275G>A rs916334281 0.00011
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val) rs370285346 0.00011
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) rs752200396 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_000256.3(MYBPC3):c.684T>G (p.Asp228Glu) rs532498780 0.00010
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=) rs367947846 0.00010
NM_000256.3(MYBPC3):c.648C>T (p.Ala216=) rs777418402 0.00009
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383 0.00006
NM_000256.3(MYBPC3):c.237C>T (p.Tyr79=) rs730880698 0.00006
NM_000256.3(MYBPC3):c.1152C>T (p.Thr384=) rs775237084 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) rs773819168 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_000256.3(MYBPC3):c.*119C>A rs764758393 0.00003
NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser) rs397515881 0.00003
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu) rs1269517446 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) rs200372325 0.00003
NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) rs543376073 0.00003
NM_000256.3(MYBPC3):c.852-14G>T rs751278539 0.00003
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.3097C>T (p.Arg1033Trp) rs748909815 0.00002
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) rs369300885 0.00002
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745 0.00002
NM_000256.3(MYBPC3):c.*131T>C rs570058149 0.00001
NM_000256.3(MYBPC3):c.*293A>G rs886048365 0.00001
NM_000256.3(MYBPC3):c.1003C>T (p.Arg335Cys) rs730880630 0.00001
NM_000256.3(MYBPC3):c.1113G>A (p.Pro371=) rs886048380 0.00001
NM_000256.3(MYBPC3):c.1397T>A (p.Met466Lys) rs397515899 0.00001
NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser) rs1565627873 0.00001
NM_000256.3(MYBPC3):c.1638G>A (p.Glu546=) rs976630639 0.00001
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687 0.00001
NM_000256.3(MYBPC3):c.2613C>T (p.Ser871=) rs531228202 0.00001
NM_000256.3(MYBPC3):c.2737+14C>A rs886048373 0.00001
NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile) rs200406864 0.00001
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215 0.00001
NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu) rs549758428 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys) rs397515994 0.00001
NM_000256.3(MYBPC3):c.3112G>A (p.Val1038Met) rs370223247 0.00001
NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp) rs368973872 0.00001
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018 0.00001
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 0.00001
NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=) rs1255638075 0.00001
NM_000256.3(MYBPC3):c.3815-12C>T rs764320767 0.00001
NM_000256.3(MYBPC3):c.493G>A (p.Glu165Lys) rs867067602 0.00001
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp) rs730880619 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000256.3(MYBPC3):c.*116T>C rs886048367
NM_000256.3(MYBPC3):c.*212C>G rs2095874401
NM_000256.3(MYBPC3):c.-34T>A rs2095902050
NM_000256.3(MYBPC3):c.-5T>G rs886048383
NM_000256.3(MYBPC3):c.121dup (p.Arg41fs) rs1248588905
NM_000256.3(MYBPC3):c.1223+1G>T rs730880639
NM_000256.3(MYBPC3):c.1227-7C>T
NM_000256.3(MYBPC3):c.1234T>C (p.Phe412Leu) rs2095890795
NM_000256.3(MYBPC3):c.1543_1545del (p.Asn515del) rs730880643
NM_000256.3(MYBPC3):c.1624+13G>C rs397515913
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.1822C>G (p.Pro608Ala) rs730880552
NM_000256.3(MYBPC3):c.1919C>A (p.Pro640His)
NM_000256.3(MYBPC3):c.1930C>T (p.Pro644Ser) rs2095886536
NM_000256.3(MYBPC3):c.1991G>T (p.Gly664Val) rs2095886397
NM_000256.3(MYBPC3):c.2149-5C>A rs36211722
NM_000256.3(MYBPC3):c.2246A>G (p.Tyr749Cys) rs1464769206
NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)
NM_000256.3(MYBPC3):c.2346C>T (p.Asn782=) rs768638405
NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg) rs1338707268
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg) rs1595843553
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2901C>A (p.Ile967=) rs2095880876
NM_000256.3(MYBPC3):c.2994G>T (p.Gln998His)
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs) rs869025468
NM_000256.3(MYBPC3):c.3301A>G (p.Thr1101Ala) rs2095878980
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) rs730880720
NM_000256.3(MYBPC3):c.3615G>C (p.Arg1205=) rs771292799
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.3753T>C (p.Tyr1251=) rs397516039
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter) rs730880618
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs) rs1595850762
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000256.3(MYBPC3):c.768C>A (p.Val256=) rs886048382
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter) rs367947846

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